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Hereditary Neuropathy - complex

Gene: FDX2

Amber List (moderate evidence)
FDX2 (ferredoxin 2)
EnsemblGeneIds (GRCh38): ENSG00000267673
EnsemblGeneIds (GRCh37): ENSG00000267673
OMIM: 614585, Gene2Phenotype
FDX2 is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Gene previously known as FDX1L. Limited evidence (1 family) suporting neuropathy being a feature of the associated condition

PMID: 30010796: Reported same variant in 2 apparently unrelated Brazilian families. Axonal
sensori-motor polyneuropathy reported in 4 out of the 6 patients. OMIM notes that peripheral neuropathy has onset in the second decade.
Sources: Expert Review
Created: 6 Jul 2020, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)

Publications

Created: 6 Jul 2020, 3:53 a.m.

Panel version: 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)
OMIM
614585
Clinvar variants
Variants in FDX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdx2 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdx2 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: FDX2 was added gene: FDX2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 30010796; 24281368; 28803783 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Review for gene: FDX2 was set to AMBER